Canonical Allele Identifier: CA497959239
Gene: CTC1 HGNC NCBI

Linked Data

dbSNP Id: rs1987298461
MyVariant Identifiers: chr17:g.8135497G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8232179G>C , CM000679.2:g.8232179G>C GRCh38
NC_000017.10:g.8135497G>C , CM000679.1:g.8135497G>C GRCh37
NC_000017.9:g.8076222G>C NCBI36
NG_032148.1:g.20917C>G
NG_032148.2:g.20917C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2109C>G ENSP00000462607.2:p.Pro703=
ENST00000581729.2:c.2109C>G ENSP00000462720.2:p.Pro703=
ENST00000581967.2:n.2561C>G
ENST00000583254.2:n.2815C>G
ENST00000699849.1:c.1212C>G ENSP00000514647.1:p.Pro404=
ENST00000699850.1:n.1372C>G
ENST00000699851.1:n.2131C>G
ENST00000699852.1:c.*785C>G ENSP00000514648.1:n.*785C>G
ENST00000699853.1:c.2109C>G ENSP00000514649.1:p.Pro703=
ENST00000699854.1:n.1902C>G
ENST00000699855.1:n.2561C>G
ENST00000699856.1:c.2109C>G ENSP00000514650.1:p.Pro703=
ENST00000699857.1:n.2117C>G
ENST00000699858.1:c.*722C>G ENSP00000514651.1:n.*722C>G
ENST00000699859.1:c.1980C>G ENSP00000514652.1:p.Pro660=
ENST00000699860.1:n.215C>G
ENST00000699861.1:n.2131C>G
ENST00000699862.1:n.3069C>G
ENST00000449476.7:c.2004C>G ENSP00000396018.2:p.Pro668=
ENST00000581671.2:n.2098C>G
ENST00000643543.1:c.*816C>G ENSP00000494323.1:n.*816C>G
ENST00000651323.1:c.2109C>G MANE Select ENSP00000498499.1:p.Pro703=
ENST00000315684.12:c.2109C>G ENSP00000313759.8:p.Pro703=
ENST00000449476.6:c.2004C>G ENSP00000396018.2:p.Pro668=
ENST00000578240.1:n.337C>G
ENST00000578537.1:c.5C>G
NM_025099.5:c.2109C>G NP_079375.3:p.Pro703=
NR_046431.1:n.2063C>G
XM_006721577.2:c.1980C>G XP_006721640.1:p.Pro660=
XM_006721578.2:c.2109C>G XP_006721641.1:p.Pro703=
XM_006721579.2:c.2109C>G XP_006721642.1:p.Pro703=
XM_011524010.1:c.2004C>G XP_011522312.1:p.Pro668=
XM_011524011.1:c.1212C>G XP_011522313.1:p.Pro404=
XR_429823.2:n.2152C>G
XR_429824.2:n.2152C>G
XR_429825.1:n.2152C>G
NM_025099.6:c.2109C>G MANE Select NP_079375.3:p.Pro703=
XM_006721577.3:c.1980C>G XP_006721640.1:p.Pro660=
XM_006721578.3:c.2109C>G XP_006721641.1:p.Pro703=
XM_011524010.2:c.2004C>G XP_011522312.1:p.Pro668=
XM_011524011.2:c.1212C>G XP_011522313.1:p.Pro404=
XR_001752639.1:n.2023C>G
XR_001752640.1:n.2152C>G
XR_001752641.1:n.2152C>G
XR_001752642.1:n.2152C>G
XR_001752643.1:n.2582C>G
XR_002958073.1:n.2152C>G
XR_429823.3:n.2152C>G
XR_429824.3:n.2152C>G
NR_046431.2:n.2024C>G